Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia.
case_series · Level IV
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Abstract
Paroxysmal nonkinesigenic dyskinesia (PNKD) is characterized by attacks of dystonia or chorea lasting minutes to hours. Recently, mutations in the myofibrillogenesis regulator 1 gene (MR-1) have been identified in 10 unrelated PNKD kindreds. The authors describe a Canadian PNKD family who does not have mutations in the MR-1 gene and links to a separate locus at 2q31. This indicates that there are at least two different genes responsible for PNKD.
Medical subject headings
- Chorea
- Chromosomes, Human, Pair 2
- Genetic Heterogeneity